Jason O'Rawe

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

Jason O'Rawe, Tao Jiang, Guangqing Sun et al. · Genome Medicine · 2013 · 457 citations · Full text

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

Giuseppe Narzisi, Jason O'Rawe, Ivan Iossifov et al. · Nature Methods · 2014 · 223 citations · Full text

Long-read Sequencing, Functional Genomics, Engineering +14

Reducing INDEL calling errors in whole genome and exome sequencing data

Han Fang, Yiyang Wu, Giuseppe Narzisi et al. · Genome Medicine · 2014 · 179 citations · Full text

Indel variant analysis of short-read sequencing data with Scalpel

Han Fang, Ewa A. Bergmann, Kanika Arora et al. · Nature Protocols · 2016 · 134 citations · Full text

Bioinformatics, Long-read Sequencing, Functional Genomics +9

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason O'Rawe, Yiyang Wu, Max J. Dörfel et al. · The American Journal of Human Genetics · 2015 · 125 citations · Full text